Human Genome and the Science of Life

Although the double helix structure of DNA was discovered in 1953 by James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin, it was not until the 1980s that powerful sequencing and information technologies were developed that enabled scientists to identify particular genes associated with hereditary diseases and to begin to map all of the genes in human DNA: the so called human genome. The human genome project was a massive international mapping exercise which began in the 1990s and culminated in the publication of a draft sequence by the International Human Genome Sequencing Consortium of the entire human genome in 2001, which is freely available on the Internet.

In the same period a broader range of bio medical knowledge was also developing, particularly in the fields of assisted conception. More recently, research into stem cells and tissue engineering, alongside the so called ”postgenomic sciences of pharmacogenomics and proteomics, has also developed. This ”science of life involves detailed understanding of the basic cellular mechanisms involved in human development, as well as a focus upon copying and ultimately manipulating these processes in the laboratory. This is linked to a number of biomedical developments in the diagnosis and treatment of disease, particularly the move towards more targeted individualized treatments tailored to individuals’ particular genetic makeup, and perhaps, in the future, utilizing cells and tissues taken from people’s own bodies to develop treatments for them.

The use of embryos is a particularly contentious aspect of the science of life and human genomics. The dangers of surveillance and discrimination against a ”genetic underclass” have also been raised, as have concerns about ”designer babies.” More generally, the optimism about these new developments has been criticized for being a form of hype which sustains the pharmaceutical, bioscience, and infertility industries, but will do little to tackle the major causes of ill health that the majority of the world’s citizens face: poverty. In the UK the government has responded to these public and professional concerns by establishing a number of oversight bodies, notably the Human Fertilization and Embryology Authority, which enforced strict limits on the type of research that can be conducted upon human embryos. Across the world there are a range of similar bodies and more or less restrictive laws, but in some countries the science of life is largely unregulated, notably China and North Korea, where stem cell research is developing apace. In the US regulation is uneven. Although assisted conception is largely unregulated, there are stringent controls on federally funded biomedical research to prevent the use of human embryos.

Sociological work on these developments covers a wide remit. The early days of the human genome project saw sociologists, in common with their colleagues in the ethical and legal disciplines, exploring the implications of greater knowledge about individuals’ genetic makeup, particularly the dangers of eugenics and genetic determinism. Others focused upon the political economy of the project, especially patenting (notably, indigenous people’s DNA) and access to genetic information by the state (primarily with respect to large scale genetic databases). As Waldby (2002) noted, this was part of a growing trend of’ ‘biovalue” in which bodily parts and processes were commodified. However, these developments have not gone unchallenged. John Moore challenged the patenting of his own DNA by researchers at Johns Hopkins University. Although he lost his case, the ownership of DNA was politicized in the process. Indigenous peoples have also resisted so called bioprospecting, where researchers take DNA samples from them to patent in the West, and this has resulted in a number of international treaties and legal claims which reassert the rights of owner ship of individuals and communities over indigenous natural resources.

The lay-expert divide is also being breached in other respects where genomics and the science of life are concerned. Many patients with hereditary diseases have considerable expertise about their condition, which can lead them to challenge costly treatments and research. A range of oppositional groups such as the disability rights movement have also challenged the biologization of illness and disability. An unlikely alliance of feminists and anti abortion groups has attacked the commodification of women’s bodies in assisted conception in particular, challenging, for example, reproductive tourism where rich western women travel to eastern countries to purchase eggs from local women for their assisted conception treatment. These criticisms are often focused upon the political and economic aspects of biomedical research and treatment within the context of late capitalism, and unpack widespread cultural assumptions about the nature of disability and infertility. Yet they can also perpetuate conservative notions of reproduction, where the sanctity of life is paramount. Nor is medical authority necessarily challenged in the process. Patient support groups often share with clinicians a discourse of objectivity and support for medical progress. And many of the people who become active in such organizations have a medical or scientific background. There are clearly a range of complex and sometimes contradictory views being expressed by particular groups and individuals in this area, which means that simple categories of ”patient,” ”clinician,” or indeed ”activist” are largely unhelpful.

From an ethnographic perspective scholars have also spent considerable time exploring the practices of gene sequencing in the laboratory and tracking their utilization in the clinic. As Rapp (1999) and Sarah Franklin have shown, as the uncertainties of diagnosis are profound, clinicians’ and clients’ choices can be very difficult. Although foregrounded, the individual is not necessarily privileged as a result of these new insights into reproductive and genetic futures. Although some patients might welcome an insight into the human face of science which an ambivalent clinician might present, others struggle to find categorical meanings to match the categorical actions that they are ultimately obliged to take about reproduction, diagnosis, and treatment: you either act or you do not.

The complexity of molecular-genetic and other new forms of biological information is often highlighted by Foucaldian scholars, particularly Nikolas Rose, who explicitly contrasts it with the crude genetics of the past, particularly in its eugenic guise. This fits with a wider theoretical emphasis upon complexity and messy systems in late modernity. Echoing the risk society thesis, the main argument here is that as biomedical science has evolved so too has its risks and uncertainties. The bureaucratic edifice of the twentieth century was unable to control and tame these risks by centralized rational means, and faith in expertise weakened to the extent that the authority of biomedicine itself came into question. At the same time, the individual became more important than the collective, and a cultural emphasis upon personal rights and choices emerged. Science has therefore evolved to develop more complex, decentred interpretations of life, where flexibility and contingency are key. Genomics and the science of life, alongside developments in information and computer technologies, are at the forefront of these complex sciences, particularly the trend towards individualization of treatment, and a move away from ”one size fits all” drugs and procedures.

However, others argue that the transformative potential and complex underpinnings of contemporary biomedicine and genetics in particular have been overemphasized. As scholars such as Diane Paul (1998) have shown, the so called ”old eugenics” had myriad links to established scholars of genetics, and their understandings of human disease were far from monological or crude. Other studies, such as Kerr’s work on cystic fibrosis, have shown that genetics has a history of multifunctional complex paradigms, which have often coexisted alongside other more determinist understandings of disease. This suggests that complexity is not unique to the contemporary science of life, nor is it primarily a response to risk. Instead, it is an enduring feature of biological science.

The extent to which genetic tests and other diagnostic and screening services give patients informed choice about whether or not to participate have also been queried in a wide range of psychosocial, ethical, and sociological empirical studies. Theresa Marteau and colleagues have comprehensively demonstrated that the con text in which pregnant women make decisions about antenatal screening is often one where information and interactions are subtly cued towards compliance. On the other hand, studies of familial testing for diseases such as Hunting ton’s disease show how relationships with close relatives, wider family, and the community as a whole, as well as the very fact that these disorders are often untreatable, shape people’s decisions about presymptomatic testing in such a way that it is often declined. Individuals who come from affected families also have complex responses to antenatal testing. For many, this is also fraught with difficulties and contradictions, as the potential to avert the birth of an affected child is weighted against the implicit denigration of affected individuals. The danger of too much information about one’s future health being generated by these tests has also been discussed at length.

This work is often mobilized in debates about the extent and meaning of ”geneticization,” a term coined by Abby Lippman to stress the pernicious reach of genetic explanations for disease and behavior. Yet evidence about the uptake of genetic diagnosis and its effects upon attitudes to disabled people and social misfits is mixed. There is no comprehensive genetic paradigm being enforced by the biomedical establishment, yet it is not possible to say that the more widespread emphasis upon biological reasons for disease of which genetics is a part has no effects upon how people account for citizens’ rights and responsibilities for health care in particular.

In any case, Lippman’s term was always meant to be focused upon a broader trend towards reductionist notions of the genetic determinants of identity, disease, and anti social behavior. Other critics such as Dorothy Nelkin have made similar arguments about the simplicity of much of the popular presentation of genetics, as well as the limited analysis of burgeoning fields such as evolutionary biology. Although some sociologists have called for a deeper engagement with these sciences and an end to the nature versus nurture debate, many remain committed to challenging the reductionism and circularity of this new form of biological determinism. Others, such as Peter Conrad and Alan Petersen, have focused their attention upon the popular presentation of genetic determinism in media accounts in particular, but policy documentation can also be subjected to similar analysis to show the prevailing emphasis upon ”genes for …” stories alongside an underlying positive focus upon technological progress, individual choice, and personal responsibility. At the same time, new technologies of visualization have emerged to move our understanding of life from the now relatively humble ultrasound of the disembodied fetus to laser scanning of internal cellular dynamics, bringing with them discourses of mastery and control alongside those of complexity and uncertainty.

A considerable corpus of work has also been built up into the public understanding of genetics, exploring and unpacking people’s under standings and ambivalent responses to genetic knowledge and its application. Media messages notwithstanding, this work shows that the public are far from ignorant about new developments. Although their technical proficiency is often wanting, their wider social intelligence about the institutional politics of science and their experiences of raising children and mixing with a range of social groups can generate sophisticated questioning of the hype around the science of life and profound concerns about commodification in particular. Just as with the analysis of the various interest groups involved in more public debates about these new technologies, the study of more general public discourse shows that it not possible to box people into particular categories of ”right to life” or ”patient advocate” when their arguments and experiences overlap in myriad ways. It is also clear from a range of studies of the ethics of genomics and the science of life that professionals share many of the so called public’s concerns, but that their ambivalence is often suppressed in more public spaces.

A further feature of sociological inquiry into genomics and the science of life concerns the emergence of new forms of ethics, primarily located in new institutional forms such as the HFEA. The perception of increasing public anxiety and newfound uncertainties of the science itself, particularly its application in the clinic and beyond, has meant that ethicists have moved out of academia into policy communities at a national and international level. This has been intensified by the globalization of biomedical research, signaled most clearly by the world wide efforts of the HGP, but continued in the more routine arrangements of trade in information and bodily commodities which sustain the research networks in this field. Ethics has also been institutionalized in local research ethics committees which vet research applications from scientists and sociologists alike. A particular issue here is informed consent. This is a reflection of the rights based culture in which we live, but also a response to a range of scandals about biomedical research where subjects’ and/or their families’ consent had not been obtained prior to the performance of dangerous and/or distressing procedures. This holds science to account in a more public way than ever before, but in a fairly limited and (some would argue) limiting way. In contrast, ethics writ large is often focused upon pushing the boundaries of appropriate practice in this area, and is dominated by a number of high profile libertarians such as John Harris and Julian Savalescu, who make compelling arguments in favor of everything from genetic enhancement to reproductive cloning.

Once again, it is not possible to interpret the rise of bioethics as uniformly supportive or restrictive towards the science of life. It would also be wrong to see it as a response to particular aspects of the science or the technology itself, as it flows from a range of complex sociopolitical developments which have happened alongside the scientific discoveries and developments. Although a greater range of voices is now included in ethical reflection and debate than perhaps was the case in the past, ethical reflection in the public sphere is not unique to the contemporary period, and ethical restrictions on medical and scientific practice have long operated at various levels of formality and informality as a matter of course. And although the new institutional forms have developed a complex infrastructure of surveillance to control medical practice, it is still the case that in the clinical context where consent is sought for diagnosis, treatment, or donations to research, the complexities of consent forms and the interpersonal dynamics between provider and client can and often do engender consent, just like the paternalism of the past.

Other sociologists, such as Nik Brown, have tracked the evolution of the human genome into post genomic and related areas of the life sciences, exploring the public presentation and interpretation of these developments, and the construction of expectations in particular. This involves innovators in packaging particular disorders and technical interventions in a way that emphasizes their relevancy and social usefulness while also generating and attempting to sustain an optimistic politics of hope in the face of profound uncertainty about medical and biological futures. The ethics of such hype has been questioned by scientists as well as sociologists, yet its place in the pharmacological armory seems fundamental. Profit drives innovation so the emphasis upon the future consumer of biomedical enhancement becomes necessary to the success of the industry, although the everyday practices of health services on the ground suggest that the ultimate operationalization of the ”science of life” is more mirage than reality.